PROJECT SUMMARY The Johns Hopkins Predoctoral Training Program in Human Genetics (HG) has grown steadily since its inception in 1980 in parallel to the spectacular growth of genetics and genomics and their application to medicine over the last four decades. Similarly, the Johns Hopkins School of Medicine continues to make commitments to human genetics as evidenced by the establishment of the McKusick-Nathans Institute of Genetic Medicine (IGM) in 1999; provision of state of the art research space in the Miller Research Building in 2004; introduction of The Genes to Society Medical School curriculum in 2009 that has genetics and genetic-thinking as an organizing principle; and, most recently, provision of new space and resources for the Johns Hopkins Genomics center that will bring together clinical and research sequencing in one unit under the IGM and the Department of Pathology. The overall objective of the HG is to provide our students with a strong foundation in basic science by exposure to a rigorous graduate education in genetics, genomics, molecular biology, cell biology and biochemistry plus a core of medically-related courses selected to provide knowledge of human biology in health and disease. Through seminars, laboratory rotations and thesis work, our students are also exposed to a wide variety of modern research technologies relevant to human genetics and learn the basic skills necessary to become an independent investigator. The research activities of the 76 HG preceptors are diverse and include human and model organism genetics and genomics, developmental genetics, identification and analysis of genes and genetic variants responsible for human monogenic disorders and complex traits, molecular cytogenetic, quantitative genetics, gene therapy, oncogenetics, stem cell genetics, genome editing for the production of cellular and animal models and for therapy of genetic disease and studies of the ethical and societal consequences of the genetic revolution. This broad spectrum of research activities in human genetics integrated with knowledge of human biology provides virtually unlimited opportunities for our students to work on projects appealing to their individual interests. The ultimate goal of our program is to produce independent, rigorous thinking investigators who are well versed in human biology in health and disease and in all aspects of human genetics and genomics. This education prepares our students to answer important basic science questions and to translate this information into bio-medical advances. The success of our graduates, who go on to productive academic careers in top universities, private sector research, or careers using genetics in law and public policy strongly supports this conclusion.